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ONTOLOGY REPORT - ANNOTATIONS


Term:tuberous sclerosis
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Accession:DOID:13515 term browser browse the term
Definition:Autosomal dominant neurocutaneous syndrome classically characterized by MENTAL RETARDATION; EPILEPSY; and skin lesions (e.g., adenoma sebaceum and hypomelanotic macules). There is, however, considerable heterogeneity in the neurologic manifestations. It is also associated with cortical tuber and HAMARTOMAS formation throughout the body, especially the heart, kidneys, and eyes. Mutations in two loci TSC1 and TSC2 that encode hamartin and tuberin, respectively, are associated with the disease.
Synonyms:exact_synonym: Bourneville Phakomatosis;   Bourneville Pringle Disease;   Bourneville Pringle's Disease;   Bourneville Syndrome;   Bourneville disease;   Bourneville phacomatosis;   Bourneville's Disease;   Bourneville's Syndrome;   Bourneville-Pringles Disease;   Cerebral Scleroses;   Cerebral Sclerosis;   Epiloia;   Sclerosis Tuberosa;   TS;   TSC;   adenoma sebaceum;   tuberose sclerosis;   tuberous sclerosis complex;   tuberous sclerosis syndrome
 narrow_synonym: CORTICAL TUBERS
 primary_id: MESH:D014402
 xref: GARD:7830;   ICD10CM:Q85.1;   ICD9CM:759.5;   NCI:C3424;   OMIM:PS191100
For additional species annotation, visit the Alliance of Genome Resources.


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tuberous sclerosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bmp4 bone morphogenetic protein 4 JBrowse link 15 20,776,060 20,791,013 RGD:9068443
G Eif4ebp1 eukaryotic translation initiation factor 4E binding protein 1 JBrowse link 16 68,954,860 68,968,248 RGD:1549429
G Flna filamin A JBrowse link X 156,460,785 156,487,245 RGD:11565117
G Ifng interferon gamma JBrowse link 7 61,337,383 61,341,419 RGD:11554173
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:8547829
G Tsc1 TSC complex subunit 1 JBrowse link 3 7,219,955 7,269,063 RGD:1624196
RGD:9068941
RGD:8554872
RGD:11073512
RGD:11570511
RGD:11062248
RGD:11554173
G Tsc2 TSC complex subunit 2 JBrowse link 10 13,962,006 13,996,684 RGD:8554872
RGD:11062248
RGD:11568672
RGD:11554173
tuberous sclerosis 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abo ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase JBrowse link 3 4,374,679 4,394,374 RGD:8554872
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 JBrowse link 3 5,519,921 5,558,390 RGD:8554872
G Adamtsl2 ADAMTS-like 2 JBrowse link 3 5,624,473 5,654,890 RGD:8554872
G Ak8 adenylate kinase 8 JBrowse link 3 7,279,429 7,394,509 RGD:8554872
G Brd3 bromodomain containing 3 JBrowse link 3 5,995,204 6,054,467 RGD:8554872
G Cacfd1 calcium channel flower domain containing 1 JBrowse link 3 5,555,807 5,571,205 RGD:8554872
G Cel carboxyl ester lipase JBrowse link 3 7,134,021 7,141,522 RGD:8554872
G Dbh dopamine beta-hydroxylase JBrowse link 3 5,709,236 5,731,895 RGD:8554872
G Fam163b family with sequence similarity 163, member B JBrowse link 3 5,656,400 5,693,273 RGD:8554872
G Gbgt1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) JBrowse link 3 7,076,582 7,079,652 RGD:8554872
G Gfi1b growth factor independent 1B transcriptional repressor JBrowse link 3 7,190,721 7,203,444 RGD:8554872
G Gtf3c5 general transcription factor IIIC subunit 5 JBrowse link 3 7,144,354 7,164,678 RGD:8554872
G Med22 mediator complex subunit 22 JBrowse link 3 5,453,678 5,458,760 RGD:8554872
G Mymk myomaker, myoblast fusion factor JBrowse link 3 5,608,243 5,617,689 RGD:8554872
G Ralgds ral guanine nucleotide dissociation stimulator JBrowse link 3 7,090,134 7,130,548 RGD:8554872
G Rexo4 REX4 homolog, 3'-5' exonuclease JBrowse link 3 5,500,578 5,510,908 RGD:8554872
G Rpl7a ribosomal protein L7a JBrowse link 3 5,458,985 5,461,627 RGD:8554872
G Sardh sarcosine dehydrogenase JBrowse link 3 5,737,203 5,802,153 RGD:8554872
G Slc2a6 solute carrier family 2 member 6 JBrowse link 3 5,567,729 5,575,144 RGD:8554872
G Spaca9 sperm acrosome associated 9 JBrowse link 3 7,269,851 7,279,253 RGD:8554872
G Stkld1 serine/threonine kinase-like domain containing 1 JBrowse link 3 5,481,524 5,500,568 RGD:8554872
G Surf1 SURF1, cytochrome c oxidase assembly factor JBrowse link 3 5,461,717 5,464,560 RGD:8554872
G Surf2 surfeit 2 JBrowse link 3 5,464,593 5,468,426 RGD:8554872
G Surf4 surfeit 4 JBrowse link 3 5,468,284 5,481,447 RGD:8554872
G Surf6 surfeit 6 JBrowse link 3 5,441,404 5,452,156 RGD:8554872
G Tsc1 TSC complex subunit 1 JBrowse link 3 7,219,955 7,269,063 RGD:7240710
RGD:8554872
RGD:11570507
G Tsc2 TSC complex subunit 2 JBrowse link 10 13,962,006 13,996,684 RGD:8554872
G Vav2 vav guanine nucleotide exchange factor 2 JBrowse link 3 5,811,504 5,976,311 RGD:8554872
G Wdr5 WD repeat domain 5 JBrowse link 3 6,061,892 6,080,724 RGD:8554872
tuberous sclerosis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Antkmt adenine nucleotide translocase lysine methyltransferase JBrowse link 10 15,160,037 15,161,895 RGD:8554872
G Baiap3 BAI1-associated protein 3 JBrowse link 10 14,601,133 14,613,881 RGD:8554872
G Cacna1h calcium voltage-gated channel subunit alpha1 H JBrowse link 10 14,730,932 14,789,201 RGD:8554872
G Ccdc154 coiled-coil domain containing 154 JBrowse link 10 14,518,240 14,529,920 RGD:8554872
G Ccdc78 coiled-coil domain containing 78 JBrowse link 10 15,155,839 15,160,039 RGD:8554872
G Chtf18 chromosome transmission fidelity factor 18 JBrowse link 10 15,090,762 15,098,825 RGD:8554872
G Ciao3 cytosolic iron-sulfur assembly component 3 JBrowse link 10 15,143,732 15,152,706 RGD:8554872
G Clcn7 chloride voltage-gated channel 7 JBrowse link 10 14,492,844 14,518,167 RGD:8554872
G Cramp1 cramped chromatin regulator homolog 1 JBrowse link 10 14,324,799 14,373,413 RGD:8554872
G Eme2 essential meiotic structure-specific endonuclease subunit 2 JBrowse link 10 14,253,552 14,257,017 RGD:8554872
G Fahd1 fumarylacetoacetate hydrolase domain containing 1 JBrowse link 10 14,214,518 14,215,957 RGD:8554872
G Fbxl16 F-box and leucine-rich repeat protein 16 JBrowse link 10 15,176,489 15,188,729 RGD:8554872
G Gfer growth factor, augmenter of liver regeneration JBrowse link 10 14,059,347 14,061,703 RGD:8554872
G Gng13 G protein subunit gamma 13 JBrowse link 10 15,088,935 15,090,839 RGD:8554872
G Gnptg N-acetylglucosamine-1-phosphate transferase subunit gamma JBrowse link 10 14,593,050 14,597,995 RGD:8554872
G Hagh hydroxyacyl glutathione hydrolase JBrowse link 10 14,215,913 14,230,506 RGD:8554872
G Haghl hydroxyacylglutathione hydrolase-like JBrowse link 10 15,152,736 15,157,221 RGD:8554872
G Hs3st6 heparan sulfate-glucosamine 3-sulfotransferase 6 JBrowse link 10 14,122,856 14,128,984 RGD:8554872
G Ifng interferon gamma JBrowse link 7 61,337,383 61,341,419 RGD:7240710
G Ift140 intraflagellar transport 140 JBrowse link 10 14,373,668 14,461,509 RGD:8554872
G Igfals insulin-like growth factor binding protein, acid labile subunit JBrowse link 10 14,240,308 14,243,554 RGD:8554872
G Jmjd8 jumonji domain containing 8 JBrowse link 10 15,195,954 15,198,870 RGD:8554872
G Jpt2 Jupiter microtubule associated homolog 2 JBrowse link 10 14,304,108 14,324,170 RGD:8554872
G Lmf1 lipase maturation factor 1 JBrowse link 10 14,945,185 15,031,855 RGD:8554872
G Mapk8ip3 mitogen-activated protein kinase 8 interacting protein 3 JBrowse link 10 14,259,394 14,299,276 RGD:8554872
G Mcrip2 MAPK regulated co-repressor interacting protein 2 JBrowse link 10 15,230,801 15,235,740 RGD:8554872
G Meiob meiosis specific with OB-fold JBrowse link 10 14,174,645 14,206,026 RGD:8554872
G Metrn meteorin, glial cell differentiation regulator JBrowse link 10 15,164,439 15,166,457 RGD:8554872
G Mettl26 methyltransferase like 26 JBrowse link 10 15,239,753 15,255,054 RGD:8554872
G Mrps34 mitochondrial ribosomal protein S34 JBrowse link 10 14,257,001 14,258,132 RGD:8554872
G Msln mesothelin JBrowse link 10 15,119,700 15,129,129 RGD:8554872
G Msrb1 methionine sulfoxide reductase B1 JBrowse link 10 14,105,750 14,111,463 RGD:8554872
G Ndufb10 NADH:ubiquinone oxidoreductase subunit B10 JBrowse link 10 14,090,128 14,092,289 RGD:8554872
G Nme3 NME/NM23 nucleoside diphosphate kinase 3 JBrowse link 10 14,258,232 14,259,365 RGD:8554872
G Noxo1 NADPH oxidase organizer 1 JBrowse link 10 14,062,331 14,066,918 RGD:8554872
G Npw neuropeptide W JBrowse link 10 14,021,187 14,022,452 RGD:8554872
G Nthl1 nth-like DNA glycosylase 1 JBrowse link 10 13,996,660 14,002,827 RGD:8554872
G Nubp2 nucleotide binding protein 2 JBrowse link 10 14,244,201 14,247,930 RGD:8554872
G Pigq phosphatidylinositol glycan anchor biosynthesis, class Q JBrowse link 10 15,289,530 15,305,593 RGD:8554872
G Pkd1 polycystin 1, transient receptor potential channel interacting JBrowse link 10 13,914,057 13,962,008 RGD:8554872
G Ptx4 pentraxin 4 JBrowse link 10 14,481,044 14,486,277 RGD:8554872
G Rab40c Rab40c, member RAS oncogene family JBrowse link 10 15,247,913 15,283,111 RGD:8554872
G RGD1565784 RGD1565784 JBrowse link 10 14,543,196 14,544,498 RGD:8554872
G Rhbdl1 rhomboid like 1 JBrowse link 10 15,201,503 15,205,856 RGD:8554872
G Rhot2 ras homolog family member T2 JBrowse link 10 15,205,943 15,211,739 RGD:8554872
G Rnf151 ring finger protein 151 JBrowse link 10 14,083,538 14,088,011 RGD:8554872
G Rpl3l ribosomal protein L3-like JBrowse link 10 14,094,769 14,105,312 RGD:8554872
G Rps2 ribosomal protein S2 JBrowse link 10 14,088,171 14,090,020 RGD:8554872
G Rpusd1 RNA pseudouridine synthase domain containing 1 JBrowse link 10 15,099,104 15,102,968 RGD:8554872
G Slc9a3r2 SLC9A3 regulator 2 JBrowse link 10 14,003,330 14,015,066 RGD:8554872
G Sox8 SRY-box transcription factor 8 JBrowse link 10 14,932,348 14,937,336 RGD:8554872
G Spsb3 splA/ryanodine receptor domain and SOCS box containing 3 JBrowse link 10 14,248,199 14,253,815 RGD:8554872
G Sstr5 somatostatin receptor 5 JBrowse link 10 14,847,749 14,853,827 RGD:8554872
G Stub1 STIP1 homology and U-box containing protein 1 JBrowse link 10 15,197,754 15,200,035 RGD:8554872
G Syngr3 synaptogyrin 3 JBrowse link 10 14,051,413 14,056,169 RGD:8554872
G Tbl3 transducin (beta)-like 3 JBrowse link 10 14,066,984 14,072,197 RGD:8554872
G Telo2 telomere maintenance 2 JBrowse link 10 14,461,581 14,476,812 RGD:8554872
G Tmem204 transmembrane protein 204 JBrowse link 10 14,417,608 14,446,272 RGD:8554872
G Tpsab1 tryptase alpha/beta 1 JBrowse link 10 14,701,253 14,703,668 RGD:8554872
G Tpsb2 tryptase beta 2 JBrowse link 10 14,722,672 14,724,464 RGD:8554872
G Tpsg1 tryptase gamma 1 JBrowse link 10 14,724,531 14,731,259 RGD:8554872
G Tsc2 TSC complex subunit 2 JBrowse link 10 13,962,006 13,996,684 RGD:7240710
RGD:8554872
RGD:11554173
G Tsr3 TSR3 ribosome maturation factor JBrowse link 10 14,598,014 14,600,576 RGD:8554872
G Ube2i ubiquitin-conjugating enzyme E2I JBrowse link 10 14,618,615 14,639,274 RGD:8554872
G Unkl unk like zinc finger JBrowse link 10 14,547,126 14,593,090 RGD:8554872
G Wdr24 WD repeat domain 24 JBrowse link 10 15,191,078 15,195,860 RGD:8554872
G Wdr90 WD repeat domain 90 JBrowse link 10 15,211,660 15,229,477 RGD:8554872
G Wfikkn1 WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1 JBrowse link 10 15,243,429 15,245,757 RGD:8554872
G Zfp598 zinc finger protein 598 JBrowse link 10 14,035,114 14,047,100 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16022
    syndrome 6143
      Neurocutaneous Syndromes 150
        tuberous sclerosis 101
          Polycystic Kidneys, Severe Infantile with Tuberous Sclerosis 0
          Renal TSC2 Angiomyolipomas, Modifier of 0
          tuberous sclerosis 1 29
          tuberous sclerosis 2 69
Path 2
Term Annotations click to browse term
  disease 16022
    Developmental Diseases 9336
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8164
        genetic disease 7688
          monogenic disease 5446
            autosomal genetic disease 4409
              autosomal dominant disease 2753
                complex cortical dysplasia with other brain malformations 527
                  Malformations of Cortical Development, Group I 377
                    tuberous sclerosis 101
                      Polycystic Kidneys, Severe Infantile with Tuberous Sclerosis 0
                      Renal TSC2 Angiomyolipomas, Modifier of 0
                      tuberous sclerosis 1 29
                      tuberous sclerosis 2 69
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.